Table 1 Clinical features of 4 HPP patients at diagnosis
Patient | PA-1 | PA-2 | PA-3 | PA-4 |
|---|---|---|---|---|
Gender | M | F | M | M |
Age of onset | 1d | 1 y | 1y | 1.5y |
Age at diagnosis | 2m | 2.4y | 8y | 4y |
Form of HPP | Infantile | Childhood | Childhood | Odonto |
Serum ALP (U/l) (reference 118-390) | 5 | 42 | 67 | 42 |
Calcium (mmol/L) (reference 2.2-2.7) | 3.1 | 2.4 | 2.5 | 2.2 |
Serum Phosphate (mmol/L) (reference 1.3-1.9) | 2.1 | 2 | 1.7 | 1.66 |
Serum PTH (pmol/L) (reference 1.2-7.1) | 0.32 | 0.32 | 1.56 | 0.36 |
25-hydroxyvitamin D(nmol/L) (reference 50-150) | na | 78.2 | 54.4 | 71 |
Height (SD) | <-2SD | 0SD | 0~-1SD | 0~-1SD |
Failure to thrive | Y | N | N | N |
Waddling gait | NA | Y | Y | N |
Joint pain | N | N | Y | N |
Early loss of deciduous teeth | NA | Y | Y | Y |
Hypomineralisation | Y | Y | Y | Y |
Loss of bone | Y | Y | Y | N |
Deformity of long bones | Y | N | N | N |
Flared metaphyses | Y | Y | Y | N |
Nephrocalcinosis | N | N | N | N |
Enzyme replacement | N | N | N | N |
Outcome | Dead | Alive | Alive | Alive |